rs2733834
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000550.3(TYRP1):c.1409-67C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.59 in 1,368,220 control chromosomes in the GnomAD database, including 260,194 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.49 ( 21835 hom., cov: 34)
Exomes 𝑓: 0.60 ( 238359 hom. )
Consequence
TYRP1
NM_000550.3 intron
NM_000550.3 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -3.34
Genes affected
TYRP1 (HGNC:12450): (tyrosinase related protein 1) This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.69).
BA1
?
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.671 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TYRP1 | NM_000550.3 | c.1409-67C>G | intron_variant | ENST00000388918.10 | |||
LURAP1L-AS1 | NR_125775.1 | n.317-8284G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TYRP1 | ENST00000388918.10 | c.1409-67C>G | intron_variant | 1 | NM_000550.3 | P1 | |||
LURAP1L-AS1 | ENST00000417638.1 | n.273-8284G>C | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.487 AC: 73877AN: 151810Hom.: 21826 Cov.: 34
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GnomAD4 exome AF: 0.602 AC: 732752AN: 1216292Hom.: 238359 AF XY: 0.593 AC XY: 363013AN XY: 612430
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GnomAD4 genome ? AF: 0.487 AC: 73914AN: 151928Hom.: 21835 Cov.: 34 AF XY: 0.479 AC XY: 35577AN XY: 74252
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ClinVar
Not reported inComputational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at